Faculty Bibliography

BACKGROUND:As BRCA1/2 testing becomes more routine, questions remain about long-term satisfaction and quality of life following testing. Previously, we described long term distress and risk management outcomes among women with BRCA1/2 mutations. This study addresses positive psychological outcomes in BRCA1/2 carriers, describing decision satisfaction and quality of life in the years following testing. METHODS:We evaluated satisfaction with testing and management decisions among 144 BRCA1/2 carriers. Prior to genetic testing, we assessed family history, sociodemographics and distress. At a mean of 5.3 years post-testing, we assessed management decisions, satisfaction with decisions and, among women with cancer, quality of life. RESULTS:Overall, satisfaction with decision making was high. Women who had risk reducing mastectomy or oophorectomy were more satisfied with management decisions. Participants who obtained a risk reducing oophorectomy were more satisfied with their genetic testing decision. Among affected carriers, high pretest anxiety was associated with poorer quality of life and having had risk reducing mastectomy prior to testing was associated with better quality of life. The negative impact of pre-test anxiety was diminished among women who had mastectomies before testing. CONCLUSIONS:BRCA1/2 carriers are satisfied with their testing and risk management decisions and report good quality of life years after testing. Having risk reducing surgery predicts increased satisfaction and improved quality of life.

PURPOSE/OBJECTIVE:Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery. PATIENTS AND METHODS/METHODS:Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC. RESULTS:TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, -0.61), perceived stress (d = -0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = -0.16; lower bound of 97.5% CI, -0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = -1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient. CONCLUSION/CONCLUSIONS:Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs.

BACKGROUND:Recent trends suggest that bilateral mastectomy (BM) is on the rise among women diagnosed with unilateral breast cancer. Few studies have investigated the factors associated with the decision to have more aggressive surgery among young, high risk patients. METHODS:As part of a larger study, 284 women aged 50 and under completed an initial survey within 6 weeks of a breast cancer diagnosis. We assessed sociodemographics, medical and family history variables, treatment recommendations, preferences and concerns, distress, perceived risk, knowledge, and neuroticism. We used multiple regression with backward entry to assess the relationship between these variables and our outcomes of decisional conflict and intentions for BM. RESULTS:Higher decisional conflict was associated with being less educated, unmarried, more anxious and less likely to have received a surgical recommendation. Preference for BM was associated with higher neuroticism, perceived risk for contralateral breast cancer, pre-testing risk of carrying a BRCA1/2 mutation, having received either a surgical recommendation (vs. no recommendation), and lower preference for lumpectomy. CONCLUSIONS:For younger women, a surgical recommendation is associated with lower decisional conflict and stronger intention for BM. Results highlight the importance of effective risk communication and decision support between a woman and her surgeon.

Lysozyme in the urine in concentrations greater than 3 micrograms per milligram of creatinine reflects renal tubular disease or dysfunction in patients without bowel disease or leukemia. We therefore used urine lysozyme assays to assess renal response to percutaneous nephrostomy and stone removal in 42 patients. Eight patients had striking increases (4.2-21.1 [mean 7.58] micrograms/mg creatinine) immediately after nephrostomy puncture in urine obtained directly from the punctured kidney. Lysozyme declined sharply thereafter and was within normal limits in all cases by postoperative day 3. This increase appeared to result from bleeding into the urine from the tract. Five other patients had lysozymuria on admission, only 1 of whom had a sharp increase after nephrostomy puncture. In the remaining patients, the lysozyme levels remained within normal limits throughout the hospital course. These data are further evidence of the absence of significant deleterious effects of nephrostomy puncture on the kidney.